IOSR Journal of Dental and Medical Sciences (IOSR-JDMS)

e-ISSN: 2279-0853, p-ISSN: 2279-0861.Volume 14, Issue 7 Ver. I (July. 2015), PP 03-06
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Xeroderma Pigmentosum with Squamous Cell Carcinoma of Eye

Nek Ram Baghel1, Sweta S. Kumar2, SankalpAwasthi3, Shailly Raj4.
Associate professor, Department of Dermatology1, Lecturer, Department of Dermatology2,Assistant professor,
Department of Dermatology3, Senior resident, Department of Ophthalmology4, UPRIMS & Research Saifai,
Etawha (U.P).
Corresponding Author: Sweta S. kumar,

Abstract: XerodermaPigmentosum(XP) is a rare autosomal recessive disorder, characterized by

photosensitivity, pigmentary changes, premature skin ageing and marked increase in risk of developing
malignant neoplasms of the skin and eyes. Here we present case of a sibling, 8 years old boy and 6 year old girl
(Figure. 1). Girl had developed squamous cell carcinoma of left eye.
Keywords: XERODERMA PIGMENTOSUM, PHOTOSENSTIVITY, SQUAMOUS CELL CARCINOMA

I.

Introduction

XP is a hereditary autosomal recessive disorder, characterized by mucocutaneous and ocular

hypersensitivity to ultraviolet radiation. Herbaand Kaposi first described XP in 1974 [1,2]. Kramer et al found
an equal sex predilection and significant parental consanguinity confirming an autosomal recessive inheritance
patner [3]. The incidence of XP in United states and Europe are 1:250000 and in Japan and other countries at a
higher frequency 1:40000. Its incidence is not that significant in context to other part of the world [4]. The basic
defect underlying the clinical manifestation is a nucleotide excision repair (NER) defect leading to a defective
repair of DNA damaged by ultra violet (UV) radiation [3,5]. XP is an autosomal recessive disorder with 100%
penetrance. In general the signs and symptoms of Xeroderma Pigmentosum starts from the age of 1-2 years.
The disease begins with photosensitivity and burning sensation after normal sun exposure in 60% cases.
Cutaneous manifestation include dryness of skin, pigmentation, freckling and telangiectasis. Occular
abnormalities include photophobia, ectropion, conjunctival infection, keratitis with incidence of tumors like
SCC, melanoma and epithelioma. There is 1000 fold increased risk of skin malignancy on sun exposed
sites. A onefifth of patients (20-30%) have associated abnormalities such as gait disturbance, aflexia, difficult
swallowing, deafness, growth delay, and low intelligence[4]. Historically, the disease was classified as classical
XP with only skin abnormalities and the De-Sanctis- Cacchione syndrome with skin abnormalities and extreme
neurological degeneration wasevident[1]. XerodermaPigmentosum is variably also known as Kaposi Disease,
Xeroderma Pigmentosum Variant type, XP-V and XP.

II.

Case Report

Case 1: We present the case of an 6 year-old girl who presented to the out-patient department of UPRIMS &
Research Saifai, Etawah (U.P), after her mother concern regarding progressive ocular lesions. At the age of 8
months she presented with numerous brownish pigmentation of the face, which was initially less in number,
although were confined to sun-exposed areas. Over time these lesions had enlarged and become progressively
more numerous and raised and spread to unexposed areas like abdomen, groin and thighs (Figure.2). Xerosis of
face and hands were observed. Scarring at multiple places. The patientss mother gave the history that girl have
severe burning sensation on exposure to sunlight. In the last year her mother had noted gradually enlarging
corneal lesions on left side of face. The growth was approximate 8x8 cm in size covered entire left eye, round to
oval in shape, indurated and was bleeding at the time of examination (Figure.3). In the last year her mother had
noted gradually enlarging corneal scarring in right eye also. On asking relevant history to her mother it was
found that following normal vaginal delivery at home with no pre-natal care, the patient had low IQ and delayed
milestones. The mother have history of consanguinity in the patient's recent lineage. Incisional biopsy was taken
from the face for the histopathological diagnosis. Histopathological diagnosis was moderately differentiated
squamous cell carcinoma (Figure.4). Immunohistochemistry staining for p53 was also carried out and was found
to be positive. The patient was advised for the surgical resection of the tumour. The patient was also advised to
apply sunscreen on exposed skin and to avoid sun exposure.
Case 2: Her 8 year old brother was also diagnosed with xerodermapigmentosum on clinical examination. He
presented with brownish-black pigmentation on sun exposed parts of the body like face, neck, hands and legs at
the age of 2 years (Figure.5). Xerosis of skin is also evident. He also complained of burning sensation on
exposure to sunlight. Corneal scarring of right eye also present (Figure.6). On asking relevant history to his
DOI: 10.9790/0853-14710306

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Xeroderma Pigmentosum with Squamous Cell Carcinoma of Eye

mother, he had no developmental delay and his mental IQ was average. The patient was advised to apply
sunscreen and avoid sun exposure. Patient was recalled for follow up every month. Unfortunately, both the
patient didnt turn up to our institution. Thus, we dont have follow up record for the patient.

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Xeroderma Pigmentosum with Squamous Cell Carcinoma of Eye

III.

Discussion

Xerodermapigmentosum is autosomal recessive genetic disease caused by defects in the normal repair
of DNA of various cutaneous and ocular cell types damaged by exposure to sunlight [6,7]. From an early age
patients are sensitive to even minimal sun exposure developing erythema, vesicles and oedema. By the age of
two years solar lentigos, xerosis and pigmentation occur. Later in childhood dysplastic and neoplastic lesions
occur with the development of actinic keratosis, keratocanthoma, basal cell carcinoma, squamous cell carcinoma
and malignant melanoma[8]. In one study the median age for development of malignant melanoma was 8 years
of age [9]. Ocular complications are nearly as common as skin lesions with keratitis progressing to
corneal opacification, loss of eyelashes, ectropion, entropion and benign and malignant lesions of the cornea and
eyelids. Neurological complications occur in approximately 30% of cases and can be severe [8,10]. XP is more
commonly seen in populations where marriage of close blood relatives is common [11].
XerodermaPigmentosum has been reported worldwide in all races with an overall prevalence of 14% per
million [12]. Treatment of the disorder includes avoidance of ultra violet radiation, topical application of 5fluorouracil to treat actinic keratosis and experimental treatments with topical DNA repair enzymes and oral
retinoids are showing promise for the future [13,14] and regular evaluation by an ophthalmologist,
dermatologist, and neurologist. Genetic counseling is an important aspect as an increased incidence of
consanguineous marriages has been reported with this disorder [11]. A case of xeroderma pigmentosum should
be give utmost importance by the panel of doctors, to improve the life expectancy of the affected individual.
There are very few cases of xerodermapigmentosum reported in literature from India. Reporting every case
might help us to know the incidence and prevalence of XP in India which is yet unknown.
Abbreviations :
DNA: Deoxyribonucleic Acid; UV: ultra-violet; XP: XerodermaPigmentosum.

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Xeroderma Pigmentosum with Squamous Cell Carcinoma of Eye

Figures legends:
Figure.1 Image of sibling.
Figure. 2Lesions spread to photoprotected sites in girl.
Figure. 3Indurated mass over left side of face.
Figure. 4Well differentiated squamous cell carcinoma.
Figure. 5Lesions spread to photoprotected sites in boy.
Figure. 5 Right corneal scarring in boy.

References
[1].
[2].
[3].
[4].
[5].
[6].
[7].
[8].
[9].
[10].
[11].
[12].
[13].
[14].

Butt FM, Moshi JR, Owibingire S, Chindia ML (2010) Xerodermapigmentosum: a review and case series. J CraniomaxillofacSurg
38: 534-537.
Rao TN, Bhagyalaxmi A, Ahmed K, Mohana Rao TS, Venkatachalam K (2009) A case of melanoma in xerodermapigmentosum.
Indian J Pathol Microbiol 52: 524-526.
Webb S (2008) Xerodermapigmentosum. BMJ 336: 444-446.
Lehmann AR, McGibbon D, Stefanini M (2011) Xerodermapigmentosum. Orphanet J Rare Dis 6: 70.
Genetics home reference (2010) Xerodermapigmentosum. A seminar of US national library.
Bhutto AM, Kirk SH (2008) Population distribution of xerodermapigmentosum. AdvExp Med Biol 637:138-43.
Cleaver JE (1968) Defective repair replication of DNA in xeroderma pigmentosum. Natur 218: 652-656.
Harper JI, Trembath RC: Rook's Textbook of Dermatology. Volume 1. Edited by Burns T, Breathnach S, Cox N, Griffiths C. UK:
Blackwell; 2004.
Kraemer KH, Lee MM, Scotto J: XerodermaPigmentosum: cutaneous, ocular and neurological abnormalities in 830 published
cases. Arch Dermatol 1987, 123:241-50.
DeSantis C, Cacchione A: L'idiozaxerodermica. Riv Spec Freniatri 1932, 56:269-92.
Hasan S, Khan MA (2011) XerodermaPigmentosum with DesquamativeGingivitis a Rare Case Report and Detailed Review of
Literature. Journal of Cosmetics, Dermatological Sciences and Applications 1: 164-170.
S Pathy, KK Naik, S Bhaskar, MC Sharma, PK Julka, et al. (2005) Squamous Cell Carcinoma of Face WithXerodermaPigmentosa
A Case Report. Indian J Med PaediatrOncol 26: 47-49.
Kraemer KH, DiGiovanna JJ, Moshell AN, Tarone RE, Peck GL:Prevention of skin cancer in xerodermaPigmentosum with the
use of oral isotretinoin. N Engl J Med 1988,319:1633-7.
Yarosh D, Klein J, O'Connor A, Hawk J, Rafal E, Wolf P: Effects of topically applied T4 endonuclease V in liposomes on skin
cancer in xerodermapigmentosum: a randomised study. Xerodermapigmentosum study group.Lancet 2001, 357:926-9.

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